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neuronal intranuclear inclusion disease

MeSH: C537395ORPHA: 2289

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with neuronal intranuclear inclusion disease, sourced from HPO and Orphanet clinical annotations.

Abnormality of the pharynxOphthalmoplegiaNystagmusOptic atrophyAtypical behaviorDementiaSeizureAtaxiaDysarthriaHypertoniaHyperreflexiaAbnormal speech patternEEG abnormalityScoliosisSpina bifida occultaAbnormal form of the vertebral bodiesEMG abnormalityAbnormality of movement

Classification & Codes

MeSH Code

C537395

Orphanet Code

ORPHA:2289
neuronal intranuclear inclusion disease
MeSHC537395
OrphanetORPHA:2289
Treatments0 drug(s)
Symptoms on record18 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO